A5006486395- Metabolism and Genetic Disorders
- Folate and B Vitamins Research
- Amino Acid Enzymes and Metabolism
- Mitochondrial Function and Pathology
- Diet and metabolism studies
- Neonatal Health and Biochemistry
- Muscle metabolism and nutrition
- Biochemical and Molecular Research
- Genetic Neurodegenerative Diseases
- Neurological disorders and treatments
- Metabolomics and Mass Spectrometry Studies
- Pharmacological Effects and Toxicity Studies
- Glycogen Storage Diseases and Myoclonus
- RNA regulation and disease
- Genetics and Neurodevelopmental Disorders
- Advanced MRI Techniques and Applications
- Pancreatic function and diabetes
- Neuroscience and Neuropharmacology Research
- Adipose Tissue and Metabolism
- Parkinson's Disease Mechanisms and Treatments
- Autism Spectrum Disorder Research
- Ion channel regulation and function
- Parasitic infections in humans and animals
- Fetal and Pediatric Neurological Disorders
- Ion Transport and Channel Regulation
Sapienza University of Rome
2015-2025
Policlinico Umberto I
2005-2025
RELX Group (United States)
2013
RELX Group (United Kingdom)
2013
Bambino Gesù Children's Hospital
2007
Fondazione Stella Maris
2000
Dopamine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited dopamine 'transportopathy' be described, with a classical presentation of early infantile-onset progressive parkinsonism dystonia. In this study we have identified new cohort patients syndrome, including, most significantly, atypical later in childhood milder disease course. We report detailed clinical features, molecular genetic findings and vitro functional investigations undertaken for adult paediatric...
Tuberculosis (TB) is still the principal cause of death caused by a single infectious agent, and balance between bacillus host defense mechanisms reflects different manifestations pathology. The aim this work was to study role myeloid-derived suppressor cells (MDSCs) during active pulmonary tuberculosis at site infection. We observed an expansion MDSCs in lung blood patients with TB, which are correlated enhanced amount nitric oxide plasma. also found that these have remarkable ability...
Newborn screening (NBS) for inborn errors of metabolism is one the most advanced tools secondary prevention in medicine, as it allows early diagnosis and prompt treatment initiation. The expanded newborn was introduced Italy between 2016 2017 (Law 167/2016; DM 13 October 2016; DPCM 12-1-2017). A total 1,586,578 infants born were screened January December 2020. For this survey, we collected data from 15 Italian laboratories, focusing on metabolic disorders identified by tandem mass...
The authors describe an Italian child with guanidinoacetate methyltransferase deficiency, neurologic regression, movement disorders, and epilepsy during the first year of life. Brain MRI showed pallidal periaqueductal alterations. In vivo 1H-MRS brain creatine depletion. assessment guanidinoacetic acid concentration in biologic fluids confirmed diagnosis. Clinical, biochemical, neuroradiologic improvement followed supplementation.
Two sisters were diagnosed in their adulthood with aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM#608643). They experienced early myasthenia-like manifestations, myoclonic jerks, oculogyric crises, tremors, and developmental delay during childhood; clinical stabilization afterwards; spontaneous improvement adolescence young adulthood. novel pathogenic mutations on DDC gene [p.Tyr37Thrfs*5 (c.105delC) p.F237S (c.710 T>C)] associated undetectable enzyme activity plasma only a mild...
Phenylketonuria (PKU) is an autosomal recessive genetic disease caused by defects in the phenylalanine hydroxylase gene. Preclinical and clinical investigations suggest that ammonia lyase (PAL) could be effective alternative for treatment of PKU. The aim this study to investigate if erythrocytes loaded with PAL may act as a safe delivery system able overcome bioavailability issues provide, vivo, therapeutically relevant concentration enzyme. Murine were recombinant from Anabaena variabilis...
Abstract Objective The objective was to deepen the understanding of causes individual variability in phenylketonuria (PKU) by investigating which metabolic variables are most important for predicting cognitive outcomes (Phe average vs Phe variation) and assessing risk impairment associated with adopting a more relaxed approach diet than is currently recommended. Method We analysed associations between measures mixed sample English Italian early-treated adults PKU ( N = 56). Metabolic were...
Brain monoamine depletion is a well-established biochemical consequence of phenylketonuria (PKU). Similar alterations are expected in the peripheral biogenic amines (PBA), which share same metabolic pathway with brain. The present cross-sectional study explored potential prognostic value PBA by examining their relationship blood Phe and clinical outcomes early-treated adult PKU patients (ETPKU). 53 ETPKU (age 27.14 ± 8.22 years; 35 female) 60 age-matched control subjects 43 13 were enrolled...
Disorders of creatine metabolism arise from genetic alterations arginine:glycine amidinotransferase (AGAT), guanidinoacetate methyltransferase (GAMT), and the transporter. We developed a strategy for detection AGAT GAMT defects by measurement (GAA) plus creatinine (Cr+Crn) in biological fluids.Three patients with deficiency same pedigree their eight relatives, as well patient affected defect his parents were analyzed new HPLC procedure comparison 90 controls. The method, which uses precolumn...
Untreated phenylketonuria (PKU) patients and PKU animal models show hypomyelination in the central nervous system white matter damages, which are accompanied by myelin basic protein (MBP) impairment. Despite many assumptions, primary explanation of mentioned cerebral outcomes remains elusive. In this study, MBP mRNA expression on brains wild type (WT) phenylketonuric (ENU2) mice were analyzed throughout lifespan (14-60-180-270-360-540 post-natal days, PND). The results confirmed low at first...